A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057372



Internal ID106092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25303015..25303066hg38UCSC Ensembl
chr12:25455949..25456000hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5414338
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057372
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001717


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